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Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I. Harzer K, et al. Among authors: rolfs a. Neuropediatrics. 2003 Dec;34(6):301-6. doi: 10.1055/s-2003-44668. Neuropediatrics. 2003. PMID: 14681755
Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation.
Böttcher T, Mix E, Koczan D, Bauer P, Pahnke J, Peters S, Weinelt S, Knoblich R, Strauss U, Cattaneo E, Thiesen HJ, Rolfs A. Böttcher T, et al. Among authors: rolfs a. J Neurosci Res. 2003 Jul 1;73(1):42-53. doi: 10.1002/jnr.10624. J Neurosci Res. 2003. PMID: 12815707
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. Giese AK, et al. Among authors: rolfs a. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1. Orphanet J Rare Dis. 2015. PMID: 26082315 Free PMC article.
427 results